Canonical Allele Identifier: CA640026611

Gene: TUBGCP6

Linked Data

• dbSNP Id: rs1163581868
• gnomAD v2: 22-50663216-G-C
• gnomAD v3: 22-50224787-G-C
• gnomAD v4: 22-50224787-G-C
• MyVariant Identifiers: chr22:g.50663216G>C (hg19) ; chr22:g.50224787G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50224787G>C , CM000684.2:g.50224787G>C	GRCh38
NC_000022.10:g.50663216G>C , CM000684.1:g.50663216G>C	GRCh37
NC_000022.9:g.49005343G>C	NCBI36
NG_032160.1:g.25185C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.1984-195C>G MANE Select	ENSP00000248846.5:n.1984-195C>G
ENST00000248846.9:c.1984-195C>G	ENSP00000248846.5:n.1984-195C>G
ENST00000439308.6:c.1984-195C>G	ENSP00000397387.2:n.1984-195C>G
ENST00000473946.1:n.293-195C>G
ENST00000491449.5:n.291-195C>G
ENST00000498611.5:n.2517-195C>G
NM_020461.3:c.1984-195C>G	NP_065194.2:n.1984-195C>G
XR_938347.1:n.2549-195C>G
XR_938348.1:n.2549-195C>G
XR_001755343.2:n.2553-195C>G
XR_001755344.2:n.2553-195C>G
XR_002958720.1:n.2553-195C>G
XR_938347.2:n.2553-195C>G
NM_020461.4:c.1984-195C>G MANE Select	NP_065194.3:n.1984-195C>G